- Narrow chest (HP:0000774): Reduced width of the chest from side to side, associated with a reduced distance from the sternal notch to the tip of the shoulder. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1190)
- Brachydactyly (HP:0001156): Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1190)
- Talipes equinovarus (HP:0001762): Talipes equinovarus (also called clubfoot) typically has four main components: inversion and adduction of the forefoot; inversion of the heel and hindfoot; equinus (limitation of extension) of the ankle and subtalar joint; and internal rotation of the leg. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1190)
- Pulmonary hypoplasia (HP:0002089). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1190)
- Abnormal fibula morphology (HP:0002991): An anomaly of the calf bone (fibula), one of the two bones of the calf. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1190)
- Short femur (HP:0003097): An abnormal shortening of the femur. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1190)
- Coronal cleft vertebrae (HP:0003417): Frontal schisis (cleft or cleavage) of vertebral bodies. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1190)
- Absent or minimally ossified vertebral bodies (HP:0004599). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1190)
- Thoracic hypoplasia (HP:0005257). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1190)
- Rhizomelia (HP:0008905): Disproportionate shortening of the proximal segment of limbs (i.e. the femur and humerus). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1190)
- Abnormal ossification involving the femoral head and neck (HP:0009107). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1190)
- Limb undergrowth (HP:0009826): Limb shortening because of underdevelopment of one or more bones of the extremities. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1190)
- Midface retrusion (HP:0011800): Posterior positions and/or vertical shortening of the infraorbital and perialar regions, or increased concavity of the face and/or reduced nasolabial angle. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1190)
- Cleft palate (HP:0000175): Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1190)
- Hypertelorism (HP:0000316): Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1190)
- Micrognathia (HP:0000347): Developmental hypoplasia of the mandible. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1190)
- Low-set ears (HP:0000369): Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1190)
- Telecanthus (HP:0000506): Distance between the inner canthi more than two standard deviations above the mean (objective); or, apparently increased distance between the inner canthi. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1190)
- Proptosis (HP:0000520): An eye that is protruding anterior to the plane of the face to a greater extent than is typical. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1190)
- Platyspondyly (HP:0000926): A flattened vertebral body shape with reduced distance between the vertebral endplates. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1190)
- Joint dislocation (HP:0001373): Displacement or malalignment of joints. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1190)
- Polyhydramnios (HP:0001561): The presence of excess amniotic fluid in the uterus during pregnancy. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1190)
- Laryngeal stenosis (HP:0001602): Stricture or narrowing of the larynx that may be associated with symptoms of respiratory difficulty depending on the degree of laryngeal narrowing. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1190)
- Enlarged cisterna magna (HP:0002280): Increase in size of the cisterna magna, one of three principal openings in the subarachnoid space between the arachnoid and pia mater, located between the cerebellum and the dorsal surface of the medulla oblongata. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1190)
- Scoliosis (HP:0002650): The presence of an abnormal lateral curvature of the spine. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1190)
- Short long bone (HP:0003026): One or more abnormally short long bone. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1190)
- Malrotation of colon (HP:0004785): An anatomical anomaly that results from an abnormal rotation of the gut as it returns to the abdominal cavity during embryogenesis. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1190)
- Laryngotracheal stenosis (HP:0004894). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1190)
- Multiple renal cysts (HP:0005562): The presence of many cysts in the kidney. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1190)
- Retinal dysplasia (HP:0007973): Abnormal growth and differentiation, structure and appearance of the retina present from birth. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1190)
- Neonatal short-trunk short stature (HP:0008857): A type of disproportionate short stature characterized by a short trunk but a average-sized limbs with congenital onset recognizable at birth. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1190)
- Abnormal pancreatic duct morphology (HP:0030992): Any structural anomaly of the pancreatic duct, which is the tubular structure that collects exocrine pancreatic secretions and transports them to the duodenum. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1190)
These phenotypes are associated with the disease Atelosteogenesis type I (ORPHA:1190).